Abnormality of the middle ear ossicles

Symptom Information:

Symptom ID: HPO:0004452
Synonyms:
Malformed ossicles [HPO:0004452]
Ossicular malformation [HPO:0004452]
Middle ear structural anomaly [Orphanet:13460]
Ossicle structural anomaly [Orphanet:13460]
Congenital anomaly of middle ear (disorder) [Orphanet:13460]
Congenital ear anomaly NOS (disorder) [Orphanet:13460]
Congenital anomaly of middle ear [Orphanet:13460]
Malformed ossicles [OMIM:Malformed ossicles]
Ossicular malformation [OMIM:Ossicular malformation]
Structural anomalies of middle ear/ossicles/tympanic cavity [Orphanet:13460]
Anomaly of middle ear congenital [Orphanet:13460]
Anomaly of middle ear congenital [MedDRA:10060957]
Anomaly of middle ear congenital NOS [MedDRA:10060957]
Congenital anomaly of middle ear, except ossicles [MedDRA:10060957]
Congenital anomaly of middle ear, excl ossicles [MedDRA:10060957]
Tympanic cavity structural anomaly [Orphanet:13460]
Quality:
Cross references:
Orphanet:13460 "Structural anomalies of middle ear/ossicles/tympanic cavity" [Orphanet:13460]
OMIM: "Malformed ossicles" [OMIM:Malformed ossicles]
OMIM: "Ossicular malformation" [OMIM:Ossicular malformation]
UMLS:C0266589 "Congenital ear anomaly NOS (disorder)" [Orphanet:13460]
UMLS:C0266599 "Congenital anomaly of middle ear" [Orphanet:13460]
Is a (Direct Parents):
HPO         Morphological abnormality of the middle ear
MedDRA Ear disorders congenital NEC
Orphanet Hearing abnormality
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the ear(HPO:0000598)
          Abnormality of the middle ear(HPO:0000370)
             Morphological abnormality of the middle ear(HPO:0008609)
                Abnormality of the middle ear ossicles(HPO:0004452)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Ear and labyrinthine disorders congenital(MedDRA:10013995)
       Ear disorders congenital NEC(MedDRA:10027668)
          Abnormality of the middle ear ossicles(HPO:0004452)
Database Frequency: 26 / 7739
Resource:

All diseases associated with this symptom:

Acrocraniofacial dysostosis (Orphanet:949)
BOR syndrome (Orphanet:107)
Branchio-otic syndrome (Orphanet:52429)
Branchiogenic deafness syndrome (Orphanet:50815)
Cleft palate - stapes fixation - oligodontia (Orphanet:2010)
Conductive deafness - malformed external ear (Orphanet:3216)
Conductive deafness - ptosis - skeletal anomalies (Orphanet:3236)
Cooper-Jabs syndrome (Orphanet:1488)
DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR (OMIM:221300)
Deafness - ear malformation - facial palsy (Orphanet:3232)
EEC syndrome (Orphanet:1896)
Focal dermal hypoplasia (Orphanet:2092)
Fraser syndrome (Orphanet:2052)
Goldenhar syndrome (Orphanet:374)
Hurler syndrome (Orphanet:93473)
Hypoplasminogenemia (Orphanet:722)
Lateral meningocele syndrome (Orphanet:2789)
Mucopolysaccharidosis type 2 (Orphanet:580)
OSSICULAR MALFORMATIONS, FAMILIAL (OMIM:165680)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Postaxial acrofacial dysostosis (Orphanet:246)
Prolidase deficiency (Orphanet:742)
Renal-genital-middle ear anomalies (Orphanet:1092)
Thickened earlobes - conductive deafness (Orphanet:2405)
Treacher-Collins syndrome (Orphanet:861)
Trisomy 13 (Orphanet:3378)